Variant report

Variant	esv3337386
Chromosome Location	chr8:104233086-104233257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104232189..104235012-chr8:104237325..104239937,2	MCF-7	breast:
2	chr8:104224929..104229381-chr8:104230946..104234610,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164929	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373904500	chr8:104233134-104233135	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs186148635	chr8:104233155-104233156	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577486765	chr8:104233195-104233196	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs74339929	chr8:104233207-104233208	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556725768	chr8:104233213-104233214	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs62525464	chr8:104233228-104233229	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371404681	chr8:104233233-104233234	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Bladder cancer	21909424	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104222400-104240800	Weak transcription	Gastric	stomach
2	chr8:104222400-104241200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:104222800-104240800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:104222800-104241000	Weak transcription	NHDF-Ad	bronchial
5	chr8:104225400-104240400	Weak transcription	Brain Angular Gyrus	brain
6	chr8:104226400-104242800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:104226600-104234800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:104227400-104237800	Weak transcription	Aorta	Aorta
9	chr8:104227600-104242200	Weak transcription	Fetal Brain Female	brain
10	chr8:104227600-104245400	Weak transcription	Fetal Brain Male	brain
11	chr8:104228000-104241600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:104228200-104233800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:104229400-104233200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:104229800-104233200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:104230000-104233200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:104230000-104237600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:104230000-104240400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:104230200-104240600	Weak transcription	Brain Anterior Caudate	brain
19	chr8:104230400-104235000	Strong transcription	Primary hematopoietic stem cells	blood
20	chr8:104230600-104233400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:104230600-104240000	Weak transcription	Brain Substantia Nigra	brain
22	chr8:104230800-104233200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:104231000-104240400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:104231200-104233400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:104231200-104234400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:104231200-104243000	Weak transcription	Esophagus	oesophagus
27	chr8:104232000-104236200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:104232000-104241600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:104232200-104233200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:104232400-104233800	Enhancers	Hela-S3	cervix
31	chr8:104232600-104238400	Weak transcription	Spleen	Spleen
32	chr8:104232600-104240000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:104232600-104241400	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:104232800-104233200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:104232800-104233400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:104232800-104233600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:104233000-104233600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:104233000-104233800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:104233000-104233800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr8:104233000-104234000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:104233200-104233400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr8:104233200-104233400	Enhancers	Lung	lung
43	chr8:104233200-104233400	Enhancers	NHLF	lung
44	chr8:104233200-104233600	Enhancers	HUVEC	blood vessel
45	chr8:104233200-104233800	Enhancers	Brain Cingulate Gyrus	brain
46	chr8:104233200-104233800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:104233200-104234000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr8:104233200-104234600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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